27 research outputs found
Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
Cone-rod dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early-onset CRD. We also found reduced photoreceptor responses in Adam9 knockout mice, previously reported to be asymptomatic. In 12-month-old knockout mice, photoreceptors appear normal, but the apical processes of the retinal pigment epithelium (RPE) cells are disorganized and contact between photoreceptor outer segments (POSs) and the RPE apical surface is compromised. In 20-month-old mice, there is clear evidence of progressive retinal degeneration with disorganized POS and thinning of the outer nuclear layer (ONL) in addition to the anomaly at the POS-RPE junction. RPE basal deposits and macrophages were also apparent in older mice. These findings therefore not only identify ADAM9 as a CRD gene but also identify a form of pathology wherein retinal disease first manifests at the POS-RPE junction
Secondary Prevention of Suicide
Leo Sher and colleagues discuss recent research on interventions to prevent secondary suicide and discuss the additional research that is needed
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Stakeholder views regarding a planned primary care office-based interactive multimedia suicide prevention tool
ObjectivesNearly half of all men who die by suicide visit a primary care clinician (PCC) in the month before death, yet few disclose suicide thoughts. We solicited stakeholders' views to guide development of a tailored multimedia program to activate middle-aged men experiencing suicide thoughts to engage with PCCs.MethodsWe conducted semi-structured interviews with 44 adults self-identifying as: suicide attempt survivor; family member/loved one of person(s) who attempted or died by suicide; PCC; non-PCC office staff; health administrator; and/or prevention advocate. We coded recorded interview transcripts and identified relevant themes using grounded theory.ResultsTwo thematic groupings emerged, informing program design: structure and delivery (including belief the program could be effective and desire for use of plain language and media over text); and informational and motivational content (including concerns about PCC preparedness; fear that disclosing suicide thoughts would necessitate hospitalization; and influence of male identity and masculinity, respectively, in care-seeking for and interpreting suicide thoughts).ConclusionStakeholder input informed the design of a primary care tailored multimedia suicide prevention tool.Practice implicationsIn revealing a previously unreported barrier to disclosing suicide thoughts to PCCs (fear of hospitalization), and underscoring known barriers, the findings may suggest additional suicide prevention approaches